Canonical Allele Identifier: CA2678973923

Gene: RUNX2

Linked Data

• gnomAD v4: 6-45547322-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547322C>T , CM000668.2:g.45547322C>T	GRCh38
NC_000006.11:g.45515059C>T , CM000668.1:g.45515059C>T	GRCh37
NC_000006.10:g.45623037C>T	NCBI36
NG_008020.1:g.224006C>T
NG_008020.2:g.224006C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*740C>T	ENSP00000496517.1:n.*740C>T
ENST00000647337.2:c.*17C>T MANE Select	ENSP00000495497.1:n.*17C>T
ENST00000359524.7:c.*17C>T	ENSP00000352514.5:n.*17C>T
ENST00000371432.7:c.*17C>T	ENSP00000360486.4:n.*17C>T
ENST00000371436.10:c.1517C>T	ENSP00000360491.6:n.1517C>T
ENST00000371438.5:c.*17C>T	ENSP00000360493.1:n.*17C>T
ENST00000478660.6:c.*178+33669C>T	ENSP00000460188.1:n.*178+33669C>T
ENST00000576263.5:c.1021+34915C>T	ENSP00000458178.1:n.1021+34915C>T
NM_001015051.3:c.*17C>T	NP_001015051.3:n.*17C>T
NM_001024630.3:c.*17C>T	NP_001019801.3:n.*17C>T
NM_001278478.1:c.1475C>T	NP_001265407.1:n.1475C>T
XM_006715232.1:c.*17C>T	XP_006715295.1:n.*17C>T
XM_011514960.1:c.1225+34915C>T	XP_011513262.1:n.1225+34915C>T
XM_011514961.1:c.*17C>T	XP_011513263.1:n.*17C>T
XM_011514962.1:c.*17C>T	XP_011513264.1:n.*17C>T
XM_011514963.1:c.1051+34915C>T	XP_011513265.1:n.1051+34915C>T
XM_011514964.1:c.1435+352C>T	XP_011513266.1:n.1435+352C>T
XM_011514966.1:c.553+34915C>T	XP_011513268.1:n.553+34915C>T
NM_001024630.4:c.*17C>T MANE Select	NP_001019801.3:n.*17C>T
NM_001278478.2:c.*17C>T	NP_001265407.1:n.*17C>T
NM_001369405.1:c.*17C>T	NP_001356334.1:n.*17C>T
NM_001015051.4:c.*17C>T	NP_001015051.3:n.*17C>T